PPT2, palmitoyl-protein thioesterase 2, 9374

N. diseases: 27; N. variants: 11
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
Neuronal Ceroid-Lipofuscinoses
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 51 74 0.220 None 1.000 2 2003 2005
Infantile neuronal ceroid lipofuscinosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 22 4 0.020 None 0.500 2 1999 2003
CUI: C0085078
Disease: Lysosomal Storage Diseases
Lysosomal Storage Diseases
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 130 8 0.020 None 1.000 2 1999 2003
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.010 None 1.000 1 2018 2018
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
group Neoplasms; Male Urogenital Diseases Neoplastic Process 1722 31 0.010 None 1.000 1 2018 2018
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
disease Neoplasms Neoplastic Process 2509 386 0.010 None 1.000 1 1990 1990
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.010 None 1.000 1 2013 2013
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 580 48 0.010 None 1.000 1 2003 2003
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.010 None 1.000 1 2003 2003
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.010 None 1.000 1 2018 2018
CUI: C0019618
Disease: Histiocytosis
Histiocytosis
disease Hemic and Lymphatic Diseases Neoplastic Process 32 3 0.010 None < 0.001 1 2003 2003
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
group Nervous System Diseases Disease or Syndrome 1515 85 0.010 None 1.000 1 2003 2003
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 441 120 0.010 None 1.000 1 2003 2003
CUI: C0398597
Disease: Histiocytic syndrome
Histiocytic syndrome
disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 21 2 0.010 None < 0.001 1 2003 2003
CUI: C1281901
Disease: Fatty acid measurement
Fatty acid measurement
group Laboratory Procedure 50 116 0.100 None 1.000 1 1 2013 2013
CUI: C0231921
Disease: Pulmonary function
Pulmonary function
phenotype Organ or Tissue Function 41 259 0.100 None 1.000 1 1 2010 2010
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Neoplastic Process 1740 865 0.100 None 1.000 1 1 2013 2013
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema
disease Respiratory Tract Diseases Disease or Syndrome 352 64 0.110 None 1.000 1 1 2014 2014
CUI: C3160731
Disease: Pulmonary function (finding)
Pulmonary function (finding)
phenotype Finding 41 259 0.100 None 1.000 1 1 2010 2010
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 1800 1022 0.100 None 1.000 1 1 2010 2010
CUI: C0017665
Disease: Membranous glomerulonephritis
Membranous glomerulonephritis
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome 197 33 0.100 None 1.000 1 1 2011 2011
CUI: C0005612
Disease: Birth Weight
Birth Weight
phenotype Pathological Conditions, Signs and Symptoms Organism Attribute 214 369 0.100 None 1.000 1 1 2019 2019
CUI: C0202177
Disease: Phospholipid measurement
Phospholipid measurement
phenotype Laboratory Procedure 58 306 0.100 None 1.000 2 2 2012 2013
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
phenotype Laboratory Procedure 1156 2575 0.100 None 1.000 1 2 2018 2018
Diabetes Mellitus, Insulin-Dependent
disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 1675 954 0.100 None 1.000 1 2 2007 2007